LIST OF NEUROMUSCULAR
CONDITIONS
Muscular Dystrophy South Australia provides a range of
services to people living with a variety of neuromuscular
conditions.
List of Neuromuscular Conditions
This is a list of some of the neuromuscular conditions for
which Muscular Dystrophy SA provides support, but is
not a complete list.
These neuromuscular conditions have certain features
in common:
 Most are hereditary
 Most are progressive
 Each causes a characteristic selective pattern of
muscle weakness
 There are currently no cures
 Each condition varies in severity but can result
in significant physical disability and may reduce
lifespan
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List of Neuromuscular Conditions
Muscular Dystrophy
1. Adrenoleukodystrophy
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Changes in muscle tone, especially muscle spasms and spasticity
Crossed eyes (strabismus)
Hearing loss
Hyperactivity
Worsening nervous system deterioration
Coma
Decreased fine motor control
Paralysis
Seizures
Swallowing difficulties
Visual impairment or blindness
2. Bethlem Myopathy (BM)
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Low muscle tone and a stiff neck that causes the head to lean to one
side (torticollis)
Delayed developmental milestones, such as sitting or walking.
Skin abnormalities such as small bumps called follicular hyperkeratosis
that develop around the elbows and knees
3. Becker Muscular Dystrophy (BMD)
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Muscle loss in begins with the hips and pelvic area, and the thighs and
the shoulders
To compensate for weakening muscles, the person may walk with a
waddling gait, walk on his toes or stick out the abdomen
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List of Neuromuscular Conditions
4. Congenital Muscular Dystrophy (CMD)
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Begins in infancy or very early childhood (typically before age 20)
Identified as hypotonia, or lack of muscle tone, can make an infant
seem “floppy.”
Slow to meet motor milestones
Significant learning disabilities, or mental retardation
5. Distal Myopathy (DM)
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Begins in adulthood
Muscle weakness in the throat, lower legs, and forearms
Muscle weakness in the ankles
Muscles weakness in the hands, wrists, and shoulders
Weakness of the vocal cords and throat
Difficulty swallowing (dysphagia)
6. Distal Muscular Dystrophy (DD)
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Late walkers
Enlarged calf muscles (known as pseudohypertrophy, or "false
enlargement)
Clumsy and fall often
Trouble climbing stairs, getting up from the floor or running
Difficulty raising their arms
7. Duchenne Muscular Dystrophy (DMD)
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Frequent falls
Difficulty getting up from a lying or sitting position
Trouble running and jumping
Waddling gait
Large calf muscles
Learning disabilities
Generally lose the ability to walk by 12 years of age, after which they
need to use a wheelchair
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List of Neuromuscular Conditions
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8. Emery-Dreifuss muscular dystrophy
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Contractures become noticeable in early childhood
Muscles weakness in the upper arms and lower legs and
progressing to muscles in the shoulders and hips.
Heart problems by adulthood
9. Facioscapulohumeral muscular dystrophy (also known as LandouzyDejerine Muscular Dystrophy)
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Affected most often: muscles in the face (facio-)
Muscle weakness around the shoulder blades (scapulo-), and
Muscle weakness in the upper arms (humeral)
10. Limb-Girdle Muscular Dystrophies
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Difficulty standing from a sitting position without using the arms,
Difficulty climbing stairs
Abnormal, sometimes waddling, walk
Large and muscular-looking calves (pseudohypertrophy), which
are not actually strong
Loss of muscle mass, thinning of certain body parts
Palpitations or passing-out spells
Shoulder weakness
11. Myotonic Muscular Dystrophy Type I (also called Steinert’s Disease)
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Prolonged muscle contractions (myotonia) and are not able to relax
certain muscles after use
Clouding of the lens of the eye (cataracts)
Abnormalities of the electrical signals that control the heartbeat (cardiac
conduction defects)
Muscle weakness in the lower legs, hands, neck, and face
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List of Neuromuscular Conditions
12. Myotonic Muscular Dystrophy Type II (also known as Proximal Myotonic
Myopathy)
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Begins in a person’s twenties
Prolonged muscle contractions (myotonia) and are not able to relax
certain muscles after use
Difficulty releasing their grip on a doorknob or handle
Slurred speech or temporary locking of their jaw
Muscle pain and weakness that mainly affects the neck, shoulders,
elbows, and hips
Cardiac (heart) problems
Clouding of the lens in the eyes (cataracts)
Diabetes
Males may experience balding and infertility
13. Myotonic Muscular Dystrophy
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Delayed muscle relaxation after contraction
Impaired nourishment of nonmuscular tissue
Weaknesses in the facial muscles, arms and legs, and muscles affecting
speech and swallowing
Baldness in men and women
Intellectual impairment
Respiratory problems
Heart abnormalities in early adulthood
14. Manifesting carrier of Muscular Dystrophy
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Mild degree of muscle weakness
Inability to walk, differing from individual to individual
May have problems such as:
o Drooping eyelids (a condition known as ptosis)
o Choke frequently
o Difficulty swallowing (called dysphagia)
o Eventual weakness of the muscles in the face and limbs
o Problems with kneeling, bending, squatting, walking and climbing
stairs.
o Double vision and a “breathy” quality of the voice
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List of Neuromuscular Conditions
15. Miyoshi Myopathy
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Appears in mid to late childhood or early-adulthood,
Most marked in the distal parts of the legs,
Not able to stand on tiptoe
Weakness and atrophy in the thighs and gluteal muscles
Difficult to climbing stairs, standing, and walking
Weakness in shoulder girdle muscles
16. Opthalmoplegic Muscular Dystrophy
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Droopy eyelids
Difficulty moving eyes
Difficulty swallowing
17. Tibial Muscular Dystrophy (also known as Udd Distal Myopathy)
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Appears after age 35
Affects the muscles at the front of the lower leg
Difficult to lift the toes while walking
Affecting muscles in the arms
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List of Neuromuscular Conditions
Leukodystrophies
18. Metachromatic leukodystrophy
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Loss of sensation in the extremities (peripheral neuropathy)
Incontinence
Seizures
Paralysis
Inability to speak
Blindness
Hearing loss
19. Adrenoleukodystrophy (also known as X-linked adrenoleukodystrophy)
There are three distinct types of X-linked adrenoleukodystrophy
First type is a childhood cerebral form
 Appear by the age of 10
 Learning and behavioral problems
 Difficulty reading, writing, understanding speech, and comprehending
written material
 aggressive behavior
 vision problems
 impaired adrenal gland function
Second type is Adrenomyeloneuropathy
 Appear between early adulthood and middle age
 Progressive stiffness and weakness in their legs (paraparesis)
 Urinary and genital tract disorders
 Some degree of brain dysfunction
 Adrenocortical insufficiency
Third type is Addison disease
 Weakness
 Weight loss
 Skin changes
 Vomiting
 Coma
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List of Neuromuscular Conditions
Motor Neuron Condition
20. Amyotrophic Lateral Sclerosis (ALS) ( also known as Lou Gehrig’s
Disease or Motor Neurone Disease)
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Appears in one's late forties or early fifties
Muscle twitching, cramping, stiffness, or weakness
May develop slurred speech
Difficulty chewing or swallowing (dysphagia)
Arms and legs begin to look thinner as muscle tissue wastes away
(atrophies)
Lose their strength and the ability to walk
Breathing difficulty
21. Distal Spinal Muscular Atrophy (also known as Spinal Muscular Atrophy
and Hereditary motor neuropathy type)
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Difficult and noisy breathing
Weak cry
Problems feeding
Recurrent episodes of pneumonia
Weakness spreads to all muscles and lose all ability to move muscles
Weakness severely impairs motor development, such as sitting,
standing, and walking
22. Spinal Bulbar (Muscular) Atrophy (also known as Kennedy’s Disease
and X-Linked Myotubular myopathy)
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Begins in adulthood and worsens slowly over time
Muscle weakness and wasting (atrophy)
Muscle wasting in the arms and legs results in cramping; leg muscle
weakness
Difficulty walking and a tendency to fall
Certain muscles in the face and throat (bulbar muscles)
Problems with swallowing and speech
Muscle twitches
Unusual breast development
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List of Neuromuscular Conditions
23. Spinal Muscular Atrophy Type I (also known as Werdnig-Hoffman
disease, Acute Spinal Muscular Atrophy or Scapuloperoneal Muscular
Atrophy)
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Appears after birth
Difficulty breathing,
Sucking and swallowing difficulty
Unable to support their head or sit unassisted
Weak muscle of thighs
24. Spinal Muscular Atrophy Type II (also known as Intermediate Spinal
Muscular Atrophy)
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Develops in children between ages 6 and 12 months
Can sit without support, although they may need help getting to a seated
position
Unable to stand or walk without support
25. Spinal Muscular Atrophy Type III (also known as Kugelberg-Welander
disease)
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Develop between early childhood and adolescence
Difficulty to climbing stairs
26. Spinal Muscular Atrophy Type IV
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Appears after age 30
Mild to moderate muscle weakness
Tremor, twitching, or mild breathing problems
Muscle weakness in upper arms and legs muscles
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List of Neuromuscular Conditions
Condition of the Peripheral Nerve
27. Andermann Syndrome Peripheral neuropathy and agenesis of the
corpus callosum (also known as Charlevoix - Saguenay
Syndrome/Disease)
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Abnormal or absent reflexes (areflexia) and weak muscle tone
(hypotonia)
Severe progressive weakness and loss of sensation in the limbs
Rhythmic shaking (tremors)
Lose this ability of walking by their teenage years
Abnormal curvature of the spine (scoliosis)
Abnormal function of certain cranial nerves
Facial muscle weakness,
Drooping eyelids (ptosis),
Difficulty following movements with the eyes (gaze palsy)
28. Charcot-Marie-Tooth Disease (also known as Hereditary Motor and
Sensory Neuropathy, or Peroneal Muscular Dystrophy)
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Appears in adolescence or early adulthood
Balance difficulties,
Clumsiness,
Muscle weakness in the feet
Muscles weakness in the lower legs
Foot abnormalities such as high arches (pes cavus), flat feet (pes
planus), or curled toes (hammer toes)
Difficulty flexing the foot or walking on the heel of the foot
Gradual hearing loss, deafness, or loss of vision
29. Critical illness polyneuropathy and/or myopathy
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Flaccid, predominantly distal tetra paresis or tetraplegia: Lower limbs
more affected than upper limbs
Weakness of the respiratory muscles
Deep tendon reflexes reduced
Sensory loss may be present
Loss of pain, temperature, and vibrations sense in the distal limbs
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List of Neuromuscular Conditions
30. Chronic Inflammatory Demyelinating Polyneuropathies
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Muscle weakness in the ankles
Numbness and tingling in the feet and toes
Abdominal fullness or bloating, diarrhea, or constipation
Difficulty with walking
Low blood with dizziness, or trouble maintaining an erection
31. Congenital insensitivity to pain and anhidrosis (also called Hereditary
sensory and autonomic neuropathy type IV)
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Analgesia (inability to feel pain)
Unintentional self-injury
Biting the tongue, lips, or fingers,
Seizures
Reduced reflexes
Pupillary abnormalities
Vasomotor instability
Lack of sweating
Aplasia of dental enamel
32. Dejerine-Sottas Disease
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Severe neuropathy (disease or abnormality of the nerves)
Muscle weakness
Loss of or changes in sensation,
Curvature of the spine
Mild hearing loss
33. Familial amyloid neuropathy
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Polyneuropathy
Impaired pain and temperature sensation
High blood pre-albumin levels
Loss of sensation in extremities
Foot ulcers
Diarrhea
Orthostatic hypotension
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List of Neuromuscular Conditions
34. Familial Dysautonomia (also known as Hereditary Sensory and
Autonomic Neuropathy and also as Riley Day syndrome)
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Motional stress or infection
Poor muscle tone
Impaired temperature regulation
Feeding difficulties
Poor motor coordination
Inadequate eye moisture
Anxiety and learning difficulties
Abnormal spinal curvature
Problems with bone health and physical coordination
35. Giant Axonal Neuropathy
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Appears in infancy or early childhood
Loose sensation in the arms, legs, and other parts of the body.
Problems with walking
Lose sensation, coordination, strength, and reflexes in their limbs
Hearing and visual problem
36. Guillain-Barré Syndrome (also known as Acute Inflammatory
Demyelinating Polyradiculoneuropathy)
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Muscle weakness or paralysis
Muscle weakness in the legs and spreads to the arms, torso, and face
Numbness, tingling, or pain
Swallowing difficulty
Difficulty breathing
Blood pressure or an abnormal heartbeat (cardiac arrhythmia)
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List of Neuromuscular Conditions
37. Hereditary Neuropathy with liability to pressure palsy
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38.
Episodes of numbness, tingling, and/or loss of muscle function (palsy)
(episode can last from several minutes to several months)
Permanent muscle weakness or loss of sensation
Pain in the limbs, especially the hands
Problem sites involve nerves in wrists, elbows, knees and fingers,
shoulders, hands, feet, and the scalp
Hereditary Sensory and Autonomic Neuropathy Type II
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Acroosteolysis
Loss of sense of touch
Loss of sense of pain
Loss of sense of temperature
Amyotrophy
Abnormal muscle development
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List of Neuromuscular Conditions
Inflammatory Myopathies
39. Dermatomyositis
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Skin changes
Muscle weakness in hips, thighs, shoulders, upper arms and neck
Difficulty swallowing (dysphagia)
Muscle pain or tenderness
Fatigue, fever and weight loss
Hardened deposits of calcium under the skin (calcinosis), especially in
children
Gastrointestinal ulcers and intestinal perforations
Lung problems
40. Inclusion Body Myositis
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Lowly progressive weakness in the muscles of the wrists and fingers
Muscle weakness in the front of the thigh (quadriceps)
Trouble with gripping, such as a shopping bag or briefcase
Frequent stumble
Weakness of the swallowing muscles
41. Myositis Ossificans Polymyositis
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Muscle weakness
Rigid muscles
Tendon weakness
Rigid tendons
Calcium deposits in muscles
Movement pain
Tenderness
Skin swelling over calcified site
Shortened digits
Skeletal malformations
Malformed fingers
Malformed toes
Limited joint movement
Skin swelling
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List of Neuromuscular Conditions
42. Lyme Neuropathy
 Fatigue
 Fever and chills
 Muscle and joint pain
 Red circular rash
 Stiff neck
 Swollen lymph nodes
 Numbness and tingling
 Peripheral neuropathy
 Pain, numbness and tingling in limbs
 Paralysis of facial muscles (Bell's palsy)
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List of Neuromuscular Conditions
Conditions of the Neuromuscular Junction
43. Congenital Myasthenic Syndrome (also known as Congenital
Myasthenia)
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Appears in adolescence or adulthood
Weak facial muscles, including muscles that control the eyelids, muscles
that move the eyes
Chewing and swallowing difficulty
Feeding difficulties
Crawling or walking may be delayed
Unable to walk in severe weakness
Episodes of breathing problems
44. Lambert-Eaton Myasthenic Syndrome
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Weakness or loss of movement that can be more or less severe,
including:
o Difficulty chewing
o Difficulty climbing stairs
o Difficulty lifting objects
o Difficulty talking
o Drooping head
o Need to use hands to get up from sitting or lying
positions
Swallowing difficulty, gagging, or choking
Vision changes such as:
o Blurry vision
o Double vision
o Problems keeping a steady gaze
45. Myasthenia Gravis
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Muscles weakness
Muscles weakness in the Eye
 Drooping of one or both eyelid
 Double vision (diplopia)
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List of Neuromuscular Conditions
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Muscles weakness in the throat
Altered speaking
Difficulty swallowing
Problems chewing
Muscles weakness in the Neck and limb
Breathing difficulty
Difficulty using arms or hands
Difficulty with head control
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List of Neuromuscular Conditions
Neuromuscular Myopathies
46. Central core disease
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Mild muscle weakness that does not worsen with time
Muscles in the upper legs and hips
Delay of motor development
Weak muscle tone (hypotonia)
Breathing problems
Abnormal curvature of the spine (scoliosis),
Hip dislocation, and joint deformities
47. Centronuclear myopathy (also known as Myotubular Myopathy)
There are two forms, which are differentiated by their pattern of
inheritance:
First form: Autosomal dominant
 Appears at adolescence or early adulthood
 Muscle pain during exercise
 Difficulty walking
 Weakness in the muscles that control eye movement (ophthalmoplegia)
 Droopy eyelids (ptosis)
 Disturbances in nerve function (neuropathy) or intellectual disability
Second form: Autosomal recessive
 Apparent at birth or begins in childhood
 Foot abnormalities,
 High arch in the roof of the mouth (high-arched palate)
 Abnormal side-to-side curvature of the spine (scoliosis)
 Mild to severe breathing problems
 The heart muscle is weakened (cardiomyopathy)
48. Hyperthyroid Myopathy
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Muscles weakness around the shoulders and sometimes the hips
Weakness in muscles of the face, throat, and the respiratory muscles
Unable to control movement of the eye and eyelids, which can lead to
vision loss
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List of Neuromuscular Conditions
49. Hypothyroid Myopathy
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Muscle enlargement along with muscle weakness
Muscle weakness around the hips and sometimes the shoulders
Slowing of reflexes
Muscle stiffness and painful muscle cramps
50. Inclusion Body Myopathy 2
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Appears in late adolescence or early adulthood
Weakness of a muscle in the lower leg
Weakness in the tibialis anterior muscles
Difficulty in walking, running and climbing stairs
Muscles weakness in the upper legs, hips, shoulders, and hands
51. Inclusion Body Myopathy with early-onset Paget disease and
Frontotemporal Dementia (IBMPFD)
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Appears in mild-adulthood
Muscle weakness
Muscle weakness in the hips and shoulders
Muscle weakness in the arms and legs
Respiratory and heart muscle weakness (cardiomyopathy)
Breathing difficulties
None pain particularly in the hips and spine
Trouble speaking, remembering words and names (dysnomia)
Loss of Judgment and inappropriate social behavior
52. Isaac’s Syndrome (also known as acquired neuromytonia)
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Persistent myokymia
Lower limb contractures
Increased muscle tone
Cyanotic episodes
Transient stiffness
Reduced motor activity with flexion
Muscle cramps
Difficulty relaxing muscles
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List of Neuromuscular Conditions
53. Periodic Paralysis (also known as Hyperkalemic Periodic Paralysis or
Gamstorp Disease)
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Begins in childhood or adolescence
Episodes involve a temporary inability to move muscles in the arms and
legs
Reduced levels of potassium in their blood (hypokalemia) during
episodes of muscle weakness
54. Polymyositis
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Progressive muscle weakness
Difficulty swallowing (dysphagia)
Difficulty speaking
Mild joint or muscle tenderness
Fatigue
Shortness of breath
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List of Neuromuscular Conditions
Metabolic Muscle Conditions
55. Acid Maltase Deficiency (also known as Pompe’s Disease or
Glycogenosis Type II)
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Muscle weakness (myopathy)
Poor muscle tone (hypotonia)
Heart defects (mild to severe)
Breathing problems
Delayed motor skills
Muscle weakness in the legs and the trunk
56. Andersen Disease/Syndrome (also known as Glycogen Storage Disease
Type IV or Branching Enzyme Deficiency)
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Irregular heartbeat
Discomfort
Fainting caused by irregular heart beat
Small lower jaw
Dental abnormalities
Low-set ears
Widely spaced eyes
Abnormal curving of fingers
Abnormal curving of toes
Short stature
Abnormal curvature of the spine
57. Adenylate Deaminase Deficiency Myodenylate Deaminase Deficiency
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Intolerance, cramps and muscle pain
People with deficiencies in this enzyme may experience no symptoms
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List of Neuromuscular Conditions
58. Barth Syndrome
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Heart muscle weakness (cardiomyopathy)
Skeletal muscle abnormalities
Low levels of white blood cells
Slow development or weak muscle tone
Increased levels of organic acids in the urine and blood
Frequent bacterial infections, such as pneumonia
59. Carnitine Palmityl Transferase I Deficiency (CPT I Deficiency)
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Appears during early childhood
Low blood sugar (hypoglycemia)
Low level of ketones
Enlarged liver (hepatomegaly),
Liver malfunction
Elevated levels of carnitine in the blood
60. Danon Disease or (also known as Glycogen Storage Type IIB)
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Begins in childhood or adolescence in most affected male
Begin in early adulthood in most affected females
Proximal muscle weakness
Thickening of heart muscle
Intermittent hepatomegaly
Glycogen deposits in the heart
61. Debranching Enzyme Deficiency (also known as Forbes Disease)
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Liver malfunction
Slowing of growth, low blood sugar levels
Seizures.
Muscle weakness of forearms, hands, lower legs and feet
Heart defects
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List of Neuromuscular Conditions
62. Glycogen Storage Disease Type III (also known as Cori Disease)
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Begins in infancy
Low blood sugar (hypoglycemia)
Elevated blood levels of liver enzymes
Enlarged liver (hepatomegaly)
Liver failure later in life
Slow growth
63. Lactate Dheydrogenase A Deficiency (also known as glycogen storage
disease XI)
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Fatigue, muscle pain, and cramps during exercise (exercise intolerance)
Breakdown of muscle tissue (rhabdomyolysis)
Kidney failure
Skin rashes
64. Myoadenylate Deaminase Deficiency
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Myalgia
Exercise-induced myalgia
Weakness
Muscle cramps
Muscle pain
65. Mytochondrial Myopathies
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Muscle weakness
Exercise intolerance
Loss of hearing
Seizure Disorder
Lack of balance or coordination
Progressive weakness
Inability to move eyes
Heart Failure
Learning deficits
Blindness
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List of Neuromuscular Conditions
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Stroke-like episodes
Droopy eyelids
Breathlessness
Dementia
Diabetes
Muscle wasting
66. Primary Carnitine Deficiency
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Appears during infancy or early childhood
Severe brain dysfunction (encephalopathy)
Weakened and enlarged heart (cardiomyopathy)
Confusion, vomiting, muscle weakness
Low blood sugar (hypoglycemia)
67. Phosphofructokinase Deficiency (also known as Tauri’s disease or
Glycogenosis Type VII)
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Exercise intolerance, with pain, cramps
Muscle breakdown
Lowering blood levels of fats
Kidney failure
68. Phosphoglycerate Mutase Deficiency
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Begin in childhood or adolescence
Experience muscle aches or cramping
Kidney failure
Permanent weakness
69. Phosphorylase Deficiency (also known as Myophosphorylase
Deficiency or McArdle’s disease)


Developmental delay
Exercise intolerance, such as cramps, muscle pain and weakness
Page 25
List of Neuromuscular Conditions
Congenital Myopathies
70. Arthrogryposis Multiplex Congenita
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

The condition is always present at birth (congenital) but does not get
worse over time (it is not progressive)
Hands, wrists, elbows, shoulders, hips, feet, and knees are affected.
Limit movement
71. Congenital fibre type disproportion
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Muscle weakness (myopathy) throughout the body
Muscles weakness of the shoulders, upper arms, hips, and thighs
Muscles weakness in the face and muscles that control eye movement
(ophthalmoplegia), sometimes causing droopy eyelids
Joint deformities (contractures)
Abnormally curved lower back (lordosis) or spine that curves to the side
(scoliosis)
Mild to severe breathing problems
Difficulty swallowing
Weakened and enlarged heart muscle
72. Nemaline Myopathy (also known as rod myopathy or Nemaline Rod
Myopathy)
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Muscles weakness of the face, neck, and limbs
Feeding and swallowing difficulties
Foot deformities
Abnormal curvature of the spine (scoliosis)
Joint deformities (contractures)
Breathing difficulty
73. Myosin storage myopathy
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Childhood onset
Waddling gait and difficulty climbing stairs,
Difficulty lifting the arms above shoulder level
Trouble breathing
Page 26
List of Neuromuscular Conditions
74. Multiminicore disease
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Begins in infancy or early childhood
Muscles weakness in the trunk and neck (axial muscles)
Less severe in the arm and leg muscles
Delay the development of motor skills
Breathing difficulties
Abnormal curvature of the spine (scoliosis)
Muscle weakness and looseness of the joints, particularly in the arms
and hands
75. Minicore Myopathy
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Begins in infancy or early childhood
Muscle weakness in the trunk and neck (axial muscles)
Muscle wasting
Scoliosis
Impaired breathing function
Reduced infant muscle tone
Delayed motor development
Infant feeding problems
Double-jointed
Weak eye muscles
76. Reducing body myopathy
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Rapid progression and fatal outcome
Delayed developmental milestone
Limb weakness and wasting at onset
Severe generalized muscle wasting and weakness,
Respiratory failure
Page 27
List of Neuromuscular Conditions
77. Walker-Warburg Syndrome (also known as Arburg syndrome, Chemke
syndrome, HARD syndrome Hydrocephalus, Agyria and Retinal
Dysplasia, Pagon syndrome, cerebro-ocular dysgenesis or cerebroocular dysplasia-muscular dystrophy syndrome)
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Muscle weakness
Mental retardation
Seizures
Cataracts
Anterior chamber malformation
Detachment of the retina
Glaucoma
Abnormalities of the male genitalia
Page 28
List of Neuromuscular Conditions
Other Myopathies
78. Andersen-Tawil syndrome
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Physical abnormalities of the head, face, and limbs
Small lower jaw
Dental abnormalities
Low-set ears
Widely spaced eyes
Unusual curving of the fingers or toes (clinodactyly)
Abnormal curvature of the spine (scoliosis)
79. Laing Distal Myopathy
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Appears in childhood
Muscle weakness in the feet and ankles
Muscle weakness in the hands and wrists
Inability to lift the big toe, and a high-stepping walk
Difficult to lift the fingers, especially the third and fourth fingers
Weakness in several muscles of the neck and face.
Weakness in the legs, hips, and shoulders
80. Myofibrillar Myopathy
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Appears anytime between infancy and late adulthood.
Muscle weakness in the hands and feet
Facial muscle weakness
Difficulty to swallowing
Difficulty to speech
Loss of sensation
Weakened heart muscle
Muscle weakness in the limbs
Respiratory failure
Abnormal side-to-side curvature of the spine
Clouding of the lens of the eyes
Page 29
List of Neuromuscular Conditions
81. Mitochondrial myopathy
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Exercise intolerance
Hearing loss
Trouble with balance and coordination
Seizures
Learning deficits
Impaired vision,
Heart defects,
Diabetes and stunted growth
82. Nonaka Myopathy

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Difficulty running
Tendency to fall
Leg muscle weakness
Leg muscle wasting
Difficulty walking on toes
83. Tubular Aggregate Mypathy

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Begins in childhood or adult
Muscle weakness
Muscle cramps
Limb weakness
Page 30
List of Neuromuscular Conditions
Genetically determined Ataxias
84. Abetalipoproteinemia (also known as Bassen Kornzwieg)

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
85.
Abnormal growth patterns in infants – developmental delays or “failure to
thrive”
Curving of the spine
Problems with balance and dexterity
Problems with coordination
Muscle weakness
Protruding abdomen
Problems with vision
Speech disorders, slurring of speech
Fatty, frothy, foul-smelling, or otherwise irregular stools
Ataxia Talengiectasia

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Begins in early childhood
Walking difficulty
Problems with balance and hand coordination,
Involuntary jerking movements (chorea)
Muscle twitches (myoclonus)
Disturbances in nerve function (neuropathy)
Trouble moving their eyes to look side-to-side (oculomotor apraxia)
Chronic lung infections
Sensitive to the effects of radiation exposure, including medical x-rays
86. Ataxia with congenital glaucoma


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
Glaucoma
Generalized loss of reflexes
High foot arch
Muscle weakness
Abnormal walk
Speech problems
Clumsy movements
Unsteadiness
Page 31
List of Neuromuscular Conditions

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
Muscle wasting
Loss of tendon reflexes
Easily fatigued
Rapid involuntary eye movements
Loss of sensation
87. Ataxia with vitamin E deficiency

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Difficulty coordinating movements (ataxia)
Speech (dysarthria)
Loss of reflexes in the legs (lower limb areflexia)
Loss of sensation in the extremities (peripheral neuropathy)
Vision loss
88. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

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
Abnormal tensing of the muscles (spasticity)
Difficulty coordinating movements (ataxia)
Muscle wasting (amyotrophy)
Involuntary eye movements (nystagmus)
Speech difficulties (dysarthria)
Deformities of the fingers and feet
Reduced sensation
Muscle Weakness in the arms and legs (peripheral neuropathy)
89. Friedreich’s Ataxia

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Loss of strength and sensation in the arms and legs
Muscle stiffness (spasticity)
Impaired speech
Have a form of heart disease called hypertrophic cardiomyopathy
Diabetes,
Impaired vision,
Hearing loss, or an abnormal curvature of the spine (scoliosis)
Poor balance when walking
Page 32
List of Neuromuscular Conditions
90. Spinocerebellar Ataxia type 1

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
Begins in early adulthood
Problems with coordination and balance
Speech and swallowing difficulties
Muscle stiffness (spasticity)
Muscle weakness in the muscles that control eye movement
(ophthalmoplegia)
Difficulty processing, learning, and remembering information (cognitive
impairment)
Numbness, tingling, or pain in the arms and legs (sensory neuropathy)
Uncontrolled muscle tensing (dystonia)
Muscle wasting (atrophy)
Muscle twitches (fasciculations)
Page 33
List of Neuromuscular Conditions
Myotonic disorders (distinct from channelopathies or
dystrophies)
91. Brody Myopathy



Begins in childhood
Muscle cramping and stiffening after exercise
Muscles weakness of the arms, legs, and face (particularly the eyelids)
92. Chondrodystrophic Myotonia (also known as Schwartz-Jampel
Syndrome)





Muscle weakness and stiffness (myotonic myopathy)
Abnormal bone development (bone dysplasia)
Permanent bending or extension of certain joints in a fixed position (joint
contractures)
Small, fixed facial features and various abnormalities of the eyes
Impaired vision
93. Rippling Muscle Disease





Rippling muscles, with rolling muscle contractions
Muscle cramps
Muscle pain
Muscle stiffness
Myotonia
Page 34
List of Neuromuscular Conditions
Phakomatoses
94. Neurofibromatosis









Begins in early childhood
Multiple café-au-lait spots, which are flat patches on the skin that are
darker than the surrounding area
Freckles in the underarms
Neurofibromas, which are noncancerous (benign) tumors that are
usually located on or just under the skin
Cancerous tumors that grow along nerves
High blood pressure (hypertension)
Short stature,
Unusually large head (macrocephaly)
Skeletal abnormalities such as an abnormal curvature of the spine
(scoliosis)
95. Neurofibromatosis Type 2 (also known as vestibular schwannomas or
acoustic neuromas)








Appears during adolescence or in a person's early twenties
Signs and symptoms vary according to tumors location
Hearing loss
Ringing in the ears (tinnitus)
Problems with balance
Changes in vision or sensation
Numbness or weakness in the arms or legs
Fluid buildup in the brain
96. Schwannomatosis




Chronic pain
Numbness
Tingling
Weakness
Page 35
List of Neuromuscular Conditions
97. Tuberous Sclerosis




Skin abnormalities
o Patches of light-colored skin
o Facial lesions
Neurological symptoms
o Seizures,
o Intellectual disability,
o Learning disabilities or developmental delays
o Trouble with communication and social interaction
Kidney problems
Lung problems
98. Von Hippel Lindau syndrome



Appears during young adulthood
Hemangioblastomas (Tumors) that develop in the brain and spinal cord
can cause headaches, vomiting, weakness, and a loss of muscle
coordination (ataxia)
Cysts in the kidneys
Page 36
List of Neuromuscular Conditions
Channelopathies
99. Myotonia Congenita (also known as Thomsen’s disease)




100.
Begins in childhood
Muscles weakness in the face and tongue
Muscle weakness in the legs
Muscle stiffness that can interfere with movement
Paramyotonia Congenita



Begins in infancy or early childhood,
Experience bouts of sustained muscle tensing (myotonia) that prevent
muscles from relaxing normally
Stiffness chiefly affects muscles in the face, neck, arms, and hands
Page 37
List of Neuromuscular Conditions
Other disorders
101.
Congenital Fibrosis of the Extraocular Muscles





102.
Hereditay Spastic Paraplegias (HSP) (also known as Familial
Spastic Paraparesis)












103.
Unable to move their eyes normally
Difficulty looking upward
Their side-to-side eye movement also be limited
Droopy eyelids (ptosis)
Limits their vision
Abnormal gait
Delayed walking
Repeated tripping or falling
Weakness of the leg muscles
Rigidity and increased tone of the person's leg muscles
Leg cramps
Muscle spasms
Highly arched feet
Bladder control problems
Relatively mild muscle wasting
Diminished vibration sense in the feet
Ankle clonus or abnormal reflex movements of the foot
Hyperkalemic periodic paralysis (also known as Impressive Syndrome)








Begins in adolescence
Occasional episodes of muscle weakness.
Loss of muscle movement (paralysis) that come and go
Most commonly occurs at the shoulders and hip
May also involve the arms and legs but does not affect muscles of the
eyes and those that help you breathe and swallow
Most commonly occurs while resting after activity
May occur on awakening
Intermittent, usually lasting 1-2 hours
Page 38
List of Neuromuscular Conditions
104.
Kearns-Sayre Syndrome (also known as oculocraniosomatic disease or
Oculocraniosomatic neuromuscular disease)















Appears before age 20
Paralysis of eye muscles
Diabetes
Deafness
Myopathy
Heart block
Hearing loss
Short stature
Heart disease
Muscle weakness
Endocrine disorders
Retinal pigmentation
Difficulty walking or moving
Cardiac conduction defects
Progressive external ophthalmoplegia
Page 39
List of Neuromuscular Conditions
For further information or support please do not hesitate to contact the
Association.
Muscular Dystrophy South Australia
36-38 Henley Beach Road, Mile End SA 5031
PO BOX 24 TORRENSVILLE PLAZA 5031
Telephone: (08) 8234 5266
Facsimile: (08) 8234 5866
Email: info@mdasa.org.au
Web: www.mdasa.org.au
Page 40